Hormonal therapy in a patient with a delayed diagnosis of Turner's syndrome

A 15-year-old girl presented to our clinic with short stature and delayed puberty. On examination her height was 139.3 cm, which is 13.2 cm below the 3(rd) percentile on a standard growth chart, and she had no clinical signs of puberty. A number of typical features of Turner's syndrome were found, including a short webbed neck, cubitus valgus, shield chest, multiple pigmented nevi, lymphedema, epicanthus and micrognathia.

Plasma follicle-stimulating hormone and luteinizing hormone levels were increased. A pelvic ultrasound demonstrated a small uterus, but the ovaries could not be visualized. The patient's bone age was 12-13 years. A horseshoe kidney was seen on renal ultrasound and an echocardiography revealed aortic coarctation. The 45,X karyotype confirmed the diagnosis.

Turner's syndrome.

Growth hormone therapy (1 IU/kg/week; approximately 0.05 mg/kg/day) was started together with oxandrolone (0.05 mg/kg/day) and transdermal estrogen. The dose of estrogen was gradually increased from 12.5 microg/day to 25.0 microg/day and then to 50.0 microg/day over a period of 12 months. Growth hormone and oxandrolone were withdrawn after 1 year, when the patient's epiphyses had fused. Hormonal replacement therapy with estrogens was continued and the patient has reached stage 3 of pubertal development and a final height of 148.5 cm.